| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71806186G>A | CA5546544 | CDH23 | c.8083G>A (p.Asp2695Asn) c.2016G>A (n.2016G>A) c.1680G>A (n.1680G>A) c.8098G>A (p.Asp2700Asn) c.1363G>A (p.Asp455Asn) n.1619G>A c.8278G>A (p.Asp2760Asn) c.8212G>A (p.Asp2738Asn) c.8275G>A (p.Asp2759Asn) c.8272G>A (p.Asp2758Asn) c.8218G>A (p.Asp2740Asn) c.8188G>A (p.Asp2730Asn) c.8143G>A (p.Asp2715Asn) c.7738G>A (p.Asp2580Asn) c.7096G>A (p.Asp2366Asn) c.4606G>A (p.Asp1536Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71806186G= | CA1918884943 | CDH23 | c.8083G= (p.Asp2695=) c.2016G= (n.2016G=) c.1680G= (n.1680G=) c.8098G= (p.Asp2700=) c.1363G= (p.Asp455=) n.1619G= c.8278G= (p.Asp2760=) c.8212G= (p.Asp2738=) c.8275G= (p.Asp2759=) c.8272G= (p.Asp2758=) c.8218G= (p.Asp2740=) c.8188G= (p.Asp2730=) c.8143G= (p.Asp2715=) c.7738G= (p.Asp2580=) c.7096G= (p.Asp2366=) c.4606G= (p.Asp1536=) | dbSNP |
| 10 | g.71806186G>T | CA377162315 | CDH23 | c.8083G>T (p.Asp2695Tyr) c.2016G>T (n.2016G>T) c.1680G>T (n.1680G>T) c.8098G>T (p.Asp2700Tyr) c.1363G>T (p.Asp455Tyr) n.1619G>T c.8278G>T (p.Asp2760Tyr) c.8212G>T (p.Asp2738Tyr) c.8275G>T (p.Asp2759Tyr) c.8272G>T (p.Asp2758Tyr) c.8218G>T (p.Asp2740Tyr) c.8188G>T (p.Asp2730Tyr) c.8143G>T (p.Asp2715Tyr) c.7738G>T (p.Asp2580Tyr) c.7096G>T (p.Asp2366Tyr) c.4606G>T (p.Asp1536Tyr) | dbSNP gnomAD v4 |